Clinical Features

Xanthomas

• Description: nodular lipid deposits in the skin and tendons

• Pathophysiology: Extremely high levels of triglycerides and/or LDL result in extravasation of plasma lipoproteins and their deposition in tissue.

• Histology: large perivascular infiltrates with foam cells (lipid-laden macrophages) and multinucleated histiocytes called Touton giant cells.

• Description: typically bilateral, yellow, flat plaques on the upper eyelids (nasal side)

• Etiology

  • Idiopathic

  • Increased incidence in

    • Patients with diabetes mellitus

    • Patients with increased lipoproteins in plasma

    • Usually affects postmenopausal women

• Associated conditions: hypercholesterolemia (e.g., primary biliary cholangitis), hyperapobetalipoproteinemia, ↑ LDL levels

• Lipemia retinalis

  • Description: opaque, white appearance of the retinal vessels, visible on fundoscopic exam

  • Associated condition: hyperlipoproteinemia type I, III, and IV

• Arcus lipoides corneae

  • Associated with hyperlipoproteinemia type II

  • Not pathological in advanced age

• Fatty liver (hepatic steatosis): associated conditions include abetalipoproteinemia, metabolic syndrome, heavy consumption of alcohol

• Pancreatitis in severe hypertriglyceridemia (typically > 1,000 mg/dL): associated conditions include hyperlipoproteinemia type I and IV, hypertriglyceridemia

• Associated conditions: hyperlipoproteinemia type II, III, and IV

• Manifests with secondary diseases such as:

  • Coronary heart disease

  • Myocardial infarction

  • Stroke

  • Peripheral arterial disease

  • Carotid artery stenosis

  • Cholesterol embolization syndrome